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rs199472953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472953(A;A)
Make rs199472953(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951517
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472953
ebirs199472953
HLIrs199472953
Exacrs199472953
Varsomers199472953
Maprs199472953
PheGenIrs199472953
hapmaprs199472953
1000 genomesrs199472953
hgdprs199472953
ensemblrs199472953
gopubmedrs199472953
geneviewrs199472953
scholarrs199472953
googlers199472953
pharmgkbrs199472953
gwascentralrs199472953
openSNPrs199472953
23andMers199472953
23andMe allrs199472953
SNP Nexus

SNPshotrs199472953
SNPdbers199472953
MSV3drs199472953
GWAS Ctlgrs199472953
Max Magnitude0
ClinVar
Risk rs199472953(A;A)
Alt rs199472953(A;A)
Reference rs199472953(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648605C>T
CLNSRC ClinVar
CLNACC RCV000058022.2,